A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family

Figure 1

Pedigree and clinical manifestations of individuals affected with EDSS. (a) The pedigree displays the index patient used for whole exome sequencing, marked with (). All parents of the affected individuals have consanguineous relationships. (b–e) The clinical manifestations of individual (III-3) include hypotrichosis, with sparse or absent scalp hairs, eyebrows, and eyelashes, an upper lip cleft with spaced and pointed teeth, cutaneous syndactyly affecting fingers 3-4 on both hands and toes 2-3 on both feet, and a discolored nail palate. (f–i) The affected individual (III-5) displays clinical features consistent with EDSS.